PLCB4 : phospholipase C beta 4
Description
The PLCB4 (phospholipase C beta 4) is a protein-coding gene located on chromosome 20.
The PLCB4 gene provides instructions for making a protein called phospholipase C (beta 4 isoform). This protein is involved in the phosphoinositide cycle, which transmits information from outside the cell to inside the cell. It converts a molecule called phosphatidylinositol 4,5-bisphosphate (PIP2) to two smaller molecules, inositol 1,4,5-trisphosphate (IP3) and 1,2-diacylglycerol. These molecules relay messages into the cell, influencing many cell activities. The beta 4 isoform of phospholipase C contributes to the development of the first and second pharyngeal arches, which ultimately develop into the jawbones, facial muscles, middle ear bones, ear canals, outer ears, and related tissues. It is also thought to play a role in vision, particularly in the function of the retina.
PLCB4 is also known as ARCND2, ARCND2A, ARCND2B, PI-PLC.
Associated Diseases
- Auriculocondylar syndrome
- Auriculocondylar syndrome 2B
- Auriculocondylar syndrome 2
- Auriculo-condylar syndrome
